ClinVar Miner

List of variants studied for amelocerebrohypohidrotic syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 550
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HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.823-22A>G rs1982515 0.42702
NM_024589.3(ROGDI):c.*292C>T rs8118 0.40388
NM_024589.3(ROGDI):c.*144G>A rs7546 0.40047
NM_024589.3(ROGDI):c.414G>A (p.Thr138=) rs11553876 0.10521
NM_024589.3(ROGDI):c.*380G>A rs3210637 0.04572
NM_024589.3(ROGDI):c.822+17C>T rs111272920 0.02340
NM_024589.3(ROGDI):c.393C>G (p.Asp131Glu) rs143095485 0.01923
NM_024589.3(ROGDI):c.433-15C>T rs114103417 0.00806
NM_024589.3(ROGDI):c.696C>T (p.Phe232=) rs75818610 0.00686
NM_024589.3(ROGDI):c.646-5C>T rs115660765 0.00647
NM_024589.3(ROGDI):c.*270T>C rs76192577 0.00642
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00548
NM_024589.3(ROGDI):c.45+19C>G rs546936996 0.00397
NM_024589.3(ROGDI):c.625C>G (p.Leu209Val) rs144866271 0.00220
NM_024589.3(ROGDI):c.522C>T (p.Ser174=) rs150687774 0.00190
NM_024589.3(ROGDI):c.822+8C>T rs376868221 0.00168
NM_024589.3(ROGDI):c.810G>A (p.Gln270=) rs137912684 0.00139
NM_024589.3(ROGDI):c.118-13C>G rs201794245 0.00137
NM_024589.3(ROGDI):c.*44C>G rs200440067 0.00096
NM_024589.3(ROGDI):c.117+9C>G rs374732191 0.00092
NM_024589.3(ROGDI):c.783C>T (p.Phe261=) rs142481526 0.00075
NM_024589.3(ROGDI):c.243C>T (p.Ala81=) rs148051351 0.00073
NM_024589.3(ROGDI):c.432+13C>T rs371432203 0.00071
NM_024589.2(ROGDI):c.-131C>G rs186867384 0.00070
NM_024589.3(ROGDI):c.567G>A (p.Leu189=) rs143000899 0.00059
NM_024589.3(ROGDI):c.489C>T (p.Pro163=) rs113245789 0.00056
NM_024589.3(ROGDI):c.*347G>T rs117730440 0.00055
NM_024589.2(ROGDI):c.-338C>T rs757790008 0.00054
NM_024589.3(ROGDI):c.516C>T (p.Ala172=) rs140043147 0.00042
NM_024589.3(ROGDI):c.348C>T (p.Ala116=) rs148870636 0.00032
NM_024589.3(ROGDI):c.823-14C>G rs201283169 0.00029
NM_024589.3(ROGDI):c.658G>A (p.Ala220Thr) rs546063670 0.00027
NM_024589.3(ROGDI):c.378G>C (p.Leu126=) rs145588848 0.00026
NM_024589.3(ROGDI):c.420T>C (p.Ala140=) rs1464249475 0.00023
NM_024589.3(ROGDI):c.859T>C (p.Phe287Leu) rs149138180 0.00022
NM_024589.3(ROGDI):c.27G>C (p.Ala9=) rs766321436 0.00021
NM_024589.3(ROGDI):c.*454G>A rs540581745 0.00019
NM_024589.3(ROGDI):c.532-4G>A rs3747610 0.00017
NM_024589.3(ROGDI):c.541G>A (p.Ala181Thr) rs750166706 0.00016
NM_024589.3(ROGDI):c.577T>C (p.Tyr193His) rs376765258 0.00016
NM_024589.3(ROGDI):c.823-15C>T rs372520122 0.00015
NM_024589.3(ROGDI):c.781T>C (p.Phe261Leu) rs371511979 0.00014
NM_024589.3(ROGDI):c.485C>A (p.Thr162Asn) rs754416466 0.00013
NM_024589.3(ROGDI):c.178A>G (p.Asn60Asp) rs997016379 0.00011
NM_024589.3(ROGDI):c.517G>A (p.Ala173Thr) rs544047205 0.00011
NM_024589.3(ROGDI):c.523G>A (p.Gly175Ser) rs376116493 0.00011
NM_024589.3(ROGDI):c.646-11G>A rs371728918 0.00011
NM_024589.3(ROGDI):c.691A>G (p.Met231Val) rs137934107 0.00011
NM_024589.3(ROGDI):c.695+16C>T rs377688304 0.00011
NM_024589.3(ROGDI):c.344A>G (p.Asp115Gly) rs771509465 0.00010
NM_024589.3(ROGDI):c.433-14G>A rs772226487 0.00010
NM_024589.3(ROGDI):c.45+16C>A rs750545355 0.00010
NM_024589.3(ROGDI):c.*54C>G rs76593206 0.00009
NM_024589.3(ROGDI):c.410A>G (p.Lys137Arg) rs374819268 0.00009
NM_024589.3(ROGDI):c.574G>A (p.Val192Ile) rs201931071 0.00009
NM_024589.3(ROGDI):c.659C>G (p.Ala220Gly) rs138707436 0.00009
NM_024589.3(ROGDI):c.20C>A (p.Ala7Glu) rs752140233 0.00008
NM_024589.3(ROGDI):c.696-8G>T rs3747609 0.00008
NM_024589.3(ROGDI):c.822+18G>A rs774729804 0.00008
NM_024589.3(ROGDI):c.823-10C>T rs199642172 0.00007
NM_024589.2(ROGDI):c.-127C>T rs996686042 0.00006
NM_024589.3(ROGDI):c.218G>C (p.Gly73Ala) rs201865380 0.00006
NM_024589.3(ROGDI):c.389G>A (p.Arg130Gln) rs374603311 0.00006
NM_024589.3(ROGDI):c.397A>G (p.Ser133Gly) rs987191768 0.00006
NM_024589.3(ROGDI):c.46-11C>T rs368078091 0.00006
NM_024589.3(ROGDI):c.584A>G (p.Asn195Ser) rs201116642 0.00006
NM_024589.3(ROGDI):c.669G>A (p.Ala223=) rs143402543 0.00006
NM_024589.3(ROGDI):c.822+14G>A rs200558978 0.00006
NM_024589.3(ROGDI):c.822+9G>A rs765281930 0.00006
NM_024589.3(ROGDI):c.433-5T>C rs971078433 0.00005
NM_024589.3(ROGDI):c.747C>T (p.Cys249=) rs375794279 0.00005
NM_024589.3(ROGDI):c.175G>A (p.Glu59Lys) rs2305659 0.00004
NM_024589.3(ROGDI):c.201-15C>T rs369198714 0.00004
NM_024589.3(ROGDI):c.441C>T (p.Asp147=) rs777109541 0.00004
NM_024589.3(ROGDI):c.46-12T>A rs975146129 0.00004
NM_024589.3(ROGDI):c.555G>C (p.Pro185=) rs771793763 0.00004
NM_024589.3(ROGDI):c.697G>A (p.Glu233Lys) rs370388318 0.00004
NM_024589.3(ROGDI):c.714C>T (p.Arg238=) rs767322805 0.00004
NM_024589.3(ROGDI):c.729C>T (p.His243=) rs1232041975 0.00004
NM_024589.3(ROGDI):c.811C>T (p.Leu271Phe) rs766106593 0.00004
NM_024589.3(ROGDI):c.823-8C>T rs374259109 0.00004
NM_024589.3(ROGDI):c.828C>T (p.Ser276=) rs767023578 0.00004
NM_024589.3(ROGDI):c.836C>G (p.Ser279Cys) rs765616394 0.00004
NM_024589.3(ROGDI):c.187C>T (p.Leu63=) rs372790777 0.00003
NM_024589.3(ROGDI):c.274C>A (p.Pro92Thr) rs143620755 0.00003
NM_024589.3(ROGDI):c.301G>A (p.Ala101Thr) rs371783831 0.00003
NM_024589.3(ROGDI):c.334C>T (p.Gln112Ter) rs372097881 0.00003
NM_024589.3(ROGDI):c.388C>T (p.Arg130Trp) rs758414235 0.00003
NM_024589.3(ROGDI):c.418G>A (p.Ala140Thr) rs146815588 0.00003
NM_024589.3(ROGDI):c.46-5C>T rs540065993 0.00003
NM_024589.3(ROGDI):c.49G>A (p.Glu17Lys) rs745342114 0.00003
NM_024589.3(ROGDI):c.4G>A (p.Ala2Thr) rs1022157711 0.00003
NM_024589.3(ROGDI):c.501C>T (p.Thr167=) rs200727029 0.00003
NM_024589.3(ROGDI):c.531+10C>T rs201876912 0.00003
NM_024589.3(ROGDI):c.531+5G>C rs749657986 0.00003
NM_024589.3(ROGDI):c.559G>A (p.Asp187Asn) rs773589345 0.00003
NM_024589.3(ROGDI):c.572A>C (p.Asn191Thr) rs965246266 0.00003
NM_024589.3(ROGDI):c.578A>C (p.Tyr193Ser) rs80033521 0.00003
NM_024589.3(ROGDI):c.588C>T (p.Leu196=) rs766970849 0.00003
NM_024589.3(ROGDI):c.620A>G (p.His207Arg) rs994876248 0.00003
NM_024589.3(ROGDI):c.621T>C (p.His207=) rs923393796 0.00003
NM_024589.3(ROGDI):c.667G>T (p.Ala223Ser) rs756917973 0.00003
NM_024589.3(ROGDI):c.851A>G (p.Tyr284Cys) rs370584122 0.00003
NM_024589.2(ROGDI):c.-74A>C rs886052039 0.00002
NM_024589.3(ROGDI):c.118-11C>G rs371176268 0.00002
NM_024589.3(ROGDI):c.19G>A (p.Ala7Thr) rs1350070250 0.00002
NM_024589.3(ROGDI):c.255+11C>T rs779818616 0.00002
NM_024589.3(ROGDI):c.337-13C>T rs762762043 0.00002
NM_024589.3(ROGDI):c.356A>G (p.His119Arg) rs905717859 0.00002
NM_024589.3(ROGDI):c.433-7C>A rs1387616706 0.00002
NM_024589.3(ROGDI):c.553C>T (p.Pro185Ser) rs775198813 0.00002
NM_024589.3(ROGDI):c.646-6C>G rs200792197 0.00002
NM_024589.3(ROGDI):c.666C>T (p.Gly222=) rs750000066 0.00002
NM_024589.3(ROGDI):c.724A>G (p.Ser242Gly) rs148274786 0.00002
NM_024589.3(ROGDI):c.765C>T (p.Asn255=) rs144724709 0.00002
NM_024589.3(ROGDI):c.768C>T (p.Asp256=) rs753887163 0.00002
NM_024589.3(ROGDI):c.785C>G (p.Thr262Ser) rs1373575683 0.00002
NM_024589.3(ROGDI):c.787G>A (p.Val263Ile) rs768480593 0.00002
NM_024589.3(ROGDI):c.823-4G>A rs1024913332 0.00002
NM_024589.3(ROGDI):c.829G>A (p.Val277Met) rs759234056 0.00002
NM_024589.3(ROGDI):c.*208G>A rs2082661454 0.00001
NM_024589.3(ROGDI):c.*246G>A rs1039786573 0.00001
NM_024589.3(ROGDI):c.*451C>G rs886052034 0.00001
NM_024589.3(ROGDI):c.117+1G>A rs570952151 0.00001
NM_024589.3(ROGDI):c.117+20C>G rs775190336 0.00001
NM_024589.3(ROGDI):c.118-3C>T rs144168578 0.00001
NM_024589.3(ROGDI):c.118-6C>T rs760381641 0.00001
NM_024589.3(ROGDI):c.149C>G (p.Ser50Cys) rs2082719118 0.00001
NM_024589.3(ROGDI):c.151G>A (p.Gly51Ser) rs768939862 0.00001
NM_024589.3(ROGDI):c.154A>G (p.Thr52Ala) rs747235473 0.00001
NM_024589.3(ROGDI):c.155C>T (p.Thr52Ile) rs779951541 0.00001
NM_024589.3(ROGDI):c.186C>T (p.Ile62=) rs1216877367 0.00001
NM_024589.3(ROGDI):c.190G>A (p.Gly64Ser) rs901817632 0.00001
NM_024589.3(ROGDI):c.201-13C>T rs1240510403 0.00001
NM_024589.3(ROGDI):c.201-9A>T rs749175130 0.00001
NM_024589.3(ROGDI):c.215A>G (p.Lys72Arg) rs779096456 0.00001
NM_024589.3(ROGDI):c.21G>A (p.Ala7=) rs1216626161 0.00001
NM_024589.3(ROGDI):c.249C>T (p.Ser83=) rs769659198 0.00001
NM_024589.3(ROGDI):c.250C>T (p.Gln84Ter) rs2082712944 0.00001
NM_024589.3(ROGDI):c.254C>T (p.Ala85Val) rs748119074 0.00001
NM_024589.3(ROGDI):c.256-4T>C rs1455512655 0.00001
NM_024589.3(ROGDI):c.256-5G>A rs572561598 0.00001
NM_024589.3(ROGDI):c.256-7C>G rs374098348 0.00001
NM_024589.3(ROGDI):c.267G>A (p.Leu89=) rs770605828 0.00001
NM_024589.3(ROGDI):c.292C>T (p.Leu98=) rs1366205416 0.00001
NM_024589.3(ROGDI):c.302C>G (p.Ala101Gly) rs1343790004 0.00001
NM_024589.3(ROGDI):c.308G>A (p.Arg103Gln) rs552833661 0.00001
NM_024589.3(ROGDI):c.313G>A (p.Asp105Asn) rs368831986 0.00001
NM_024589.3(ROGDI):c.318G>C (p.Lys106Asn) rs1239643038 0.00001
NM_024589.3(ROGDI):c.333G>A (p.Gln111=) rs1263184916 0.00001
NM_024589.3(ROGDI):c.336+8C>T rs1447116245 0.00001
NM_024589.3(ROGDI):c.347C>G (p.Ala116Gly) rs1060502982 0.00001
NM_024589.3(ROGDI):c.349A>G (p.Arg117Gly) rs1434946457 0.00001
NM_024589.3(ROGDI):c.34C>T (p.Arg12Trp) rs867005426 0.00001
NM_024589.3(ROGDI):c.36G>A (p.Arg12=) rs1034942616 0.00001
NM_024589.3(ROGDI):c.374A>C (p.Tyr125Ser) rs1190821261 0.00001
NM_024589.3(ROGDI):c.375C>T (p.Tyr125=) rs748410768 0.00001
NM_024589.3(ROGDI):c.376C>T (p.Leu126=) rs775252143 0.00001
NM_024589.3(ROGDI):c.391G>C (p.Asp131His) rs1235377184 0.00001
NM_024589.3(ROGDI):c.417C>T (p.Gly139=) rs375517608 0.00001
NM_024589.3(ROGDI):c.427C>T (p.Leu143Phe) rs985601573 0.00001
NM_024589.3(ROGDI):c.432+14G>A rs568004509 0.00001
NM_024589.3(ROGDI):c.432+17C>T rs377687764 0.00001
NM_024589.3(ROGDI):c.445G>C (p.Val149Leu) rs1248019368 0.00001
NM_024589.3(ROGDI):c.447G>C (p.Val149=) rs1060504776 0.00001
NM_024589.3(ROGDI):c.45+15C>T rs1408044583 0.00001
NM_024589.3(ROGDI):c.46-4G>A rs775523259 0.00001
NM_024589.3(ROGDI):c.469C>T (p.Arg157Ter) rs387907146 0.00001
NM_024589.3(ROGDI):c.470G>A (p.Arg157Gln) rs780893164 0.00001
NM_024589.3(ROGDI):c.48G>A (p.Glu16=) rs771954544 0.00001
NM_024589.3(ROGDI):c.490G>A (p.Ala164Thr) rs760780110 0.00001
NM_024589.3(ROGDI):c.507C>T (p.Pro169=) rs767771299 0.00001
NM_024589.3(ROGDI):c.508G>A (p.Glu170Lys) rs575700252 0.00001
NM_024589.3(ROGDI):c.514G>A (p.Ala172Thr) rs201213891 0.00001
NM_024589.3(ROGDI):c.52G>T (p.Glu18Ter) rs1221411185 0.00001
NM_024589.3(ROGDI):c.531+20C>T rs1258798420 0.00001
NM_024589.3(ROGDI):c.531G>A (p.Thr177=) rs930841516 0.00001
NM_024589.3(ROGDI):c.532-5C>T rs756577944 0.00001
NM_024589.3(ROGDI):c.532-7C>T rs1273592198 0.00001
NM_024589.3(ROGDI):c.540C>T (p.Phe180=) rs373433527 0.00001
NM_024589.3(ROGDI):c.546T>C (p.Pro182=) rs753694941 0.00001
NM_024589.3(ROGDI):c.573C>T (p.Asn191=) rs780108056 0.00001
NM_024589.3(ROGDI):c.591C>G (p.Asn197Lys) rs551129970 0.00001
NM_024589.3(ROGDI):c.615G>T (p.Gln205His) rs148557909 0.00001
NM_024589.3(ROGDI):c.623C>T (p.Ala208Val) rs745998638 0.00001
NM_024589.3(ROGDI):c.631C>A (p.Pro211Thr) rs943573881 0.00001
NM_024589.3(ROGDI):c.645+2T>A rs754417953 0.00001
NM_024589.3(ROGDI):c.645+3G>A rs990386555 0.00001
NM_024589.3(ROGDI):c.646-6C>T rs200792197 0.00001
NM_024589.3(ROGDI):c.651C>T (p.Phe217=) rs773539275 0.00001
NM_024589.3(ROGDI):c.661G>C (p.Gly221Arg) rs757872277 0.00001
NM_024589.3(ROGDI):c.665G>A (p.Gly222Asp) rs1317312771 0.00001
NM_024589.3(ROGDI):c.678T>C (p.His226=) rs549672547 0.00001
NM_024589.3(ROGDI):c.695T>C (p.Phe232Ser) rs776235683 0.00001
NM_024589.3(ROGDI):c.696-16C>T rs373940267 0.00001
NM_024589.3(ROGDI):c.712C>T (p.Arg238Cys) rs760809797 0.00001
NM_024589.3(ROGDI):c.730G>A (p.Val244Met) rs748820137 0.00001
NM_024589.3(ROGDI):c.740T>A (p.Val247Glu) rs1319338750 0.00001
NM_024589.3(ROGDI):c.748G>A (p.Val250Met) rs749565672 0.00001
NM_024589.3(ROGDI):c.753C>T (p.Ile251=) rs144581570 0.00001
NM_024589.3(ROGDI):c.756C>G (p.Pro252=) rs781037239 0.00001
NM_024589.3(ROGDI):c.766G>A (p.Asp256Asn) rs1161402172 0.00001
NM_024589.3(ROGDI):c.795G>A (p.Leu265=) rs749782882 0.00001
NM_024589.3(ROGDI):c.797A>G (p.Gln266Arg) rs2082669298 0.00001
NM_024589.3(ROGDI):c.798G>A (p.Gln266=) rs1157020326 0.00001
NM_024589.3(ROGDI):c.819C>T (p.Asp273=) rs762853362 0.00001
NM_024589.3(ROGDI):c.838A>G (p.Ser280Gly) rs777114840 0.00001
NM_024589.3(ROGDI):c.85G>A (p.Ala29Thr) rs376839753 0.00001
NM_024589.3(ROGDI):c.88G>T (p.Val30Leu) rs751917059 0.00001
NM_024589.3(ROGDI):c.91T>C (p.Leu31=) rs1201976752 0.00001
NC_000016.10:g.(?_3727698)_(4802591_?)dup
NC_000016.10:g.4802447CCT[2] rs1319711782
NC_000016.9:g.(?_4847441)_(4852592_?)dup
NC_000016.9:g.(?_4847919)_(4852572_?)dup
NM_024589.2(ROGDI):c.-181G>A rs891502822
NM_024589.2(ROGDI):c.-202delG rs569838251
NM_024589.2(ROGDI):c.-320C>G rs17137286
NM_024589.2(ROGDI):c.-325G>C rs886052040
NM_024589.2(ROGDI):c.-342C>A rs886052041
NM_024589.2(ROGDI):c.-379T>C rs886052042
NM_024589.2(ROGDI):c.-68G>C rs1167973629
NM_024589.2(ROGDI):c.-69C>T rs886052038
NM_024589.2(ROGDI):c.-89G>T rs538342367
NM_024589.3(ROGDI):c.*112C>T rs886052036
NM_024589.3(ROGDI):c.*24C>T rs756091670
NM_024589.3(ROGDI):c.*298G>A rs545854112
NM_024589.3(ROGDI):c.*355G>T rs886052035
NM_024589.3(ROGDI):c.-3_45+8del
NM_024589.3(ROGDI):c.102G>C (p.Leu34=) rs758967613
NM_024589.3(ROGDI):c.103C>T (p.Gln35Ter) rs2082742684
NM_024589.3(ROGDI):c.111C>T (p.Ile37=)
NM_024589.3(ROGDI):c.112C>G (p.Leu38Val)
NM_024589.3(ROGDI):c.113T>G (p.Leu38Arg) rs1555491894
NM_024589.3(ROGDI):c.114C>G (p.Leu38=) rs2082742435
NM_024589.3(ROGDI):c.117+10C>G rs113858060
NM_024589.3(ROGDI):c.117+10C>T rs113858060
NM_024589.3(ROGDI):c.117+11G>T
NM_024589.3(ROGDI):c.117+1G>T rs570952151
NM_024589.3(ROGDI):c.117+5C>G rs761951820
NM_024589.3(ROGDI):c.117+5C>T rs761951820
NM_024589.3(ROGDI):c.117+6_117+7delinsAT rs2082742151
NM_024589.3(ROGDI):c.117+7A>G rs1394907212
NM_024589.3(ROGDI):c.117+9C>T
NM_024589.3(ROGDI):c.117G>A (p.Lys39=) rs956797047
NM_024589.3(ROGDI):c.117G>T (p.Lys39Asn) rs956797047
NM_024589.3(ROGDI):c.118-10T>A rs2141912884
NM_024589.3(ROGDI):c.118-13C>T
NM_024589.3(ROGDI):c.118-14C>T
NM_024589.3(ROGDI):c.118-20T>C
NM_024589.3(ROGDI):c.118-24_118-17del rs145700776
NM_024589.3(ROGDI):c.118-2A>C
NM_024589.3(ROGDI):c.118-2A>G rs1060502981
NM_024589.3(ROGDI):c.118-6C>G
NM_024589.3(ROGDI):c.118-9G>C rs2082720201
NM_024589.3(ROGDI):c.11T>A (p.Val4Glu) rs2082747445
NM_024589.3(ROGDI):c.120G>C (p.Glu40Asp)
NM_024589.3(ROGDI):c.132C>G (p.Arg44=)
NM_024589.3(ROGDI):c.137C>G (p.Thr46Ser) rs1200058055
NM_024589.3(ROGDI):c.139C>T (p.Leu47=) rs199731766
NM_024589.3(ROGDI):c.146G>A (p.Gly49Asp)
NM_024589.3(ROGDI):c.148T>C (p.Ser50Pro)
NM_024589.3(ROGDI):c.150C>T (p.Ser50=) rs781477170
NM_024589.3(ROGDI):c.152dup (p.Thr52fs)
NM_024589.3(ROGDI):c.158A>G (p.Glu53Gly)
NM_024589.3(ROGDI):c.162G>C (p.Gly54=) rs1596278606
NM_024589.3(ROGDI):c.165C>G (p.Pro55=) rs1455879564
NM_024589.3(ROGDI):c.169A>T (p.Lys57Ter)
NM_024589.3(ROGDI):c.172C>G (p.Gln58Glu)
NM_024589.3(ROGDI):c.180C>T (p.Asn60=) rs766718622
NM_024589.3(ROGDI):c.186C>G (p.Ile62Met) rs1216877367
NM_024589.3(ROGDI):c.18A>G (p.Ala6=)
NM_024589.3(ROGDI):c.194G>C (p.Ser65Thr) rs2141912636
NM_024589.3(ROGDI):c.195C>G (p.Ser65Arg)
NM_024589.3(ROGDI):c.197G>A (p.Cys66Tyr) rs1555491559
NM_024589.3(ROGDI):c.1A>G (p.Met1Val) rs2082747732
NM_024589.3(ROGDI):c.201-17G>A
NM_024589.3(ROGDI):c.201-19C>G rs746119583
NM_024589.3(ROGDI):c.201-1G>C rs1473111275
NM_024589.3(ROGDI):c.201-9A>G
NM_024589.3(ROGDI):c.202A>C (p.Thr68Pro) rs2082713943
NM_024589.3(ROGDI):c.205G>T (p.Asp69Tyr)
NM_024589.3(ROGDI):c.207C>A (p.Asp69Glu) rs977378578
NM_024589.3(ROGDI):c.207C>T (p.Asp69=) rs977378578
NM_024589.3(ROGDI):c.208C>T (p.Gln70Ter)
NM_024589.3(ROGDI):c.222G>C (p.Val74=)
NM_024589.3(ROGDI):c.229C>T (p.Leu77=) rs1384593950
NM_024589.3(ROGDI):c.229_230del (p.Leu77fs) rs764899074
NM_024589.3(ROGDI):c.231G>T (p.Leu77=)
NM_024589.3(ROGDI):c.232C>T (p.Gln78Ter)
NM_024589.3(ROGDI):c.234G>T (p.Gln78His) rs767642673
NM_024589.3(ROGDI):c.235G>A (p.Gly79Arg)
NM_024589.3(ROGDI):c.237G>A (p.Gly79=) rs771193385
NM_024589.3(ROGDI):c.237G>C (p.Gly79=)
NM_024589.3(ROGDI):c.245T>A (p.Leu82His) rs773049349
NM_024589.3(ROGDI):c.255+12G>C
NM_024589.3(ROGDI):c.255+13G>T
NM_024589.3(ROGDI):c.255+13del rs2141911852
NM_024589.3(ROGDI):c.255+20C>G
NM_024589.3(ROGDI):c.255+20C>T
NM_024589.3(ROGDI):c.255+7_255+11dup rs1235158317
NM_024589.3(ROGDI):c.255+8C>A rs372649944
NM_024589.3(ROGDI):c.256-11T>C
NM_024589.3(ROGDI):c.256-16C>G
NM_024589.3(ROGDI):c.256-29_256-13dup
NM_024589.3(ROGDI):c.256-7C>T rs374098348
NM_024589.3(ROGDI):c.257A>T (p.Asp86Val) rs774073956
NM_024589.3(ROGDI):c.25G>A (p.Ala9Thr) rs2141915981
NM_024589.3(ROGDI):c.260T>G (p.Val87Gly) rs1477391414
NM_024589.3(ROGDI):c.265C>A (p.Leu89Met) rs2082702685
NM_024589.3(ROGDI):c.276C>G (p.Pro92=) rs376597130
NM_024589.3(ROGDI):c.276C>T (p.Pro92=) rs376597130
NM_024589.3(ROGDI):c.277C>T (p.Arg93Trp) rs780503540
NM_024589.3(ROGDI):c.278G>A (p.Arg93Gln)
NM_024589.3(ROGDI):c.279G>C (p.Arg93=)
NM_024589.3(ROGDI):c.27G>A (p.Ala9=)
NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter) rs387907145
NM_024589.3(ROGDI):c.295C>T (p.His99Tyr)
NM_024589.3(ROGDI):c.296A>G (p.His99Arg)
NM_024589.3(ROGDI):c.29C>G (p.Ala10Gly) rs1324617654
NM_024589.3(ROGDI):c.2T>C (p.Met1Thr) rs2082747688
NM_024589.3(ROGDI):c.300C>A (p.Phe100Leu) rs371657994
NM_024589.3(ROGDI):c.300C>T (p.Phe100=)
NM_024589.3(ROGDI):c.302_308dup (p.Glu104fs) rs1596277148
NM_024589.3(ROGDI):c.305T>C (p.Phe102Ser) rs2141910617
NM_024589.3(ROGDI):c.309G>A (p.Arg103=)
NM_024589.3(ROGDI):c.309G>C (p.Arg103=)
NM_024589.3(ROGDI):c.317A>G (p.Lys106Arg) rs545861164
NM_024589.3(ROGDI):c.319C>G (p.Gln107Glu) rs1211419981
NM_024589.3(ROGDI):c.325A>G (p.Lys109Glu)
NM_024589.3(ROGDI):c.327G>T (p.Lys109Asn) rs888611327
NM_024589.3(ROGDI):c.329_336+5del rs2082701593
NM_024589.3(ROGDI):c.331C>T (p.Gln111Ter)
NM_024589.3(ROGDI):c.336+12C>T
NM_024589.3(ROGDI):c.336+13C>G
NM_024589.3(ROGDI):c.336+13C>T
NM_024589.3(ROGDI):c.336+19G>T rs941485363
NM_024589.3(ROGDI):c.336+3G>A rs765836538
NM_024589.3(ROGDI):c.336+5C>T rs2141910504
NM_024589.3(ROGDI):c.336+6C>T rs1555491410
NM_024589.3(ROGDI):c.336+8C>A
NM_024589.3(ROGDI):c.337-11C>A
NM_024589.3(ROGDI):c.337-15G>T
NM_024589.3(ROGDI):c.337-16T>A rs2141909472
NM_024589.3(ROGDI):c.337-2A>G rs774701696
NM_024589.3(ROGDI):c.337-7C>G rs1596276645
NM_024589.3(ROGDI):c.340C>T (p.Gln114Ter) rs1555491350
NM_024589.3(ROGDI):c.348C>A (p.Ala116=) rs148870636
NM_024589.3(ROGDI):c.34C>A (p.Arg12=)
NM_024589.3(ROGDI):c.357T>C (p.His119=) rs2082694921
NM_024589.3(ROGDI):c.35G>T (p.Arg12Leu) rs2141915953
NM_024589.3(ROGDI):c.360G>A (p.Val120=) rs2141909392
NM_024589.3(ROGDI):c.367G>A (p.Ala123Thr)
NM_024589.3(ROGDI):c.36G>C (p.Arg12=) rs1034942616
NM_024589.3(ROGDI):c.386G>A (p.Ser129Asn)
NM_024589.3(ROGDI):c.389G>C (p.Arg130Pro) rs374603311
NM_024589.3(ROGDI):c.392A>C (p.Asp131Ala) rs2082694603
NM_024589.3(ROGDI):c.402C>A (p.Tyr134Ter) rs919033318
NM_024589.3(ROGDI):c.408C>A (p.Phe136Leu)
NM_024589.3(ROGDI):c.413C>G (p.Thr138Arg) rs540638420
NM_024589.3(ROGDI):c.413C>T (p.Thr138Met)
NM_024589.3(ROGDI):c.416G>A (p.Gly139Asp) rs1567600743
NM_024589.3(ROGDI):c.421G>A (p.Glu141Lys)
NM_024589.3(ROGDI):c.423G>C (p.Glu141Asp) rs758200466
NM_024589.3(ROGDI):c.424G>T (p.Val142Phe) rs1255273555
NM_024589.3(ROGDI):c.432+11C>G
NM_024589.3(ROGDI):c.432+12C>A
NM_024589.3(ROGDI):c.432+13dup rs2082693928
NM_024589.3(ROGDI):c.432+16G>A rs979625188
NM_024589.3(ROGDI):c.432+1dup rs2082694047
NM_024589.3(ROGDI):c.432+8G>A rs538455657
NM_024589.3(ROGDI):c.433-13C>T
NM_024589.3(ROGDI):c.433-18C>T
NM_024589.3(ROGDI):c.433-6C>G rs1892013977
NM_024589.3(ROGDI):c.433-8C>T
NM_024589.3(ROGDI):c.435G>A (p.Leu145=) rs1052275164
NM_024589.3(ROGDI):c.436A>T (p.Met146Leu) rs886052037
NM_024589.3(ROGDI):c.45+11C>G rs1402877289
NM_024589.3(ROGDI):c.45+12G>A rs2082746531
NM_024589.3(ROGDI):c.45+14G>A
NM_024589.3(ROGDI):c.45+17A>G
NM_024589.3(ROGDI):c.45+37_46-30del rs786205125
NM_024589.3(ROGDI):c.45+9C>T
NM_024589.3(ROGDI):c.45+9_45+20del rs772340154
NM_024589.3(ROGDI):c.453G>C (p.Leu151=) rs2082683229
NM_024589.3(ROGDI):c.46-13G>T rs1283060910
NM_024589.3(ROGDI):c.46-14G>T rs776356340
NM_024589.3(ROGDI):c.46-15G>A
NM_024589.3(ROGDI):c.46-18G>T
NM_024589.3(ROGDI):c.46-20C>T rs1356575308
NM_024589.3(ROGDI):c.46-4G>T rs775523259
NM_024589.3(ROGDI):c.46-5C>G rs540065993
NM_024589.3(ROGDI):c.46-6C>T rs1185670210
NM_024589.3(ROGDI):c.46-7C>T
NM_024589.3(ROGDI):c.465A>C (p.Arg155Ser) rs1367837038
NM_024589.3(ROGDI):c.467C>T (p.Ala156Val) rs2141907538
NM_024589.3(ROGDI):c.46G>C (p.Glu16Gln) rs2082744243
NM_024589.3(ROGDI):c.480C>T (p.Leu160=) rs1425221368
NM_024589.3(ROGDI):c.485C>T (p.Thr162Ile) rs754416466
NM_024589.3(ROGDI):c.486C>T (p.Thr162=)
NM_024589.3(ROGDI):c.492C>T (p.Ala164=)
NM_024589.3(ROGDI):c.503T>A (p.Leu168His) rs1465183649
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs) rs786205124
NM_024589.3(ROGDI):c.507del (p.Glu170fs) rs786205124
NM_024589.3(ROGDI):c.513C>T (p.Ile171=) rs774067328
NM_024589.3(ROGDI):c.525C>T (p.Gly175=)
NM_024589.3(ROGDI):c.530C>A (p.Thr177Lys) rs571018862
NM_024589.3(ROGDI):c.530C>T (p.Thr177Met) rs571018862
NM_024589.3(ROGDI):c.531+11C>T
NM_024589.3(ROGDI):c.531+14C>T
NM_024589.3(ROGDI):c.531+15_531+24del rs1239705757
NM_024589.3(ROGDI):c.531+5G>T
NM_024589.3(ROGDI):c.532-11G>A
NM_024589.3(ROGDI):c.532-17C>T rs1192772817
NM_024589.3(ROGDI):c.532-2A>T rs786205119
NM_024589.3(ROGDI):c.532C>T (p.Arg178Trp)
NM_024589.3(ROGDI):c.533G>T (p.Arg178Leu) rs751703075
NM_024589.3(ROGDI):c.534G>A (p.Arg178=) rs2141906632
NM_024589.3(ROGDI):c.548C>T (p.Ala183Val) rs1306134473
NM_024589.3(ROGDI):c.554C>G (p.Pro185Arg) rs1212858197
NM_024589.3(ROGDI):c.555G>A (p.Pro185=) rs771793763
NM_024589.3(ROGDI):c.558C>A (p.Ser186=)
NM_024589.3(ROGDI):c.558C>T (p.Ser186=) rs575384175
NM_024589.3(ROGDI):c.559G>C (p.Asp187His) rs773589345
NM_024589.3(ROGDI):c.561C>T (p.Asp187=) rs921046328
NM_024589.3(ROGDI):c.562C>G (p.Leu188Val)
NM_024589.3(ROGDI):c.562C>T (p.Leu188=)
NM_024589.3(ROGDI):c.569T>C (p.Val190Ala) rs1567598260
NM_024589.3(ROGDI):c.570C>G (p.Val190=)
NM_024589.3(ROGDI):c.570C>T (p.Val190=) rs769206337
NM_024589.3(ROGDI):c.575T>A (p.Val192Asp)
NM_024589.3(ROGDI):c.577_578delinsAG (p.Tyr193Ser) rs2141906440
NM_024589.3(ROGDI):c.578A>T (p.Tyr193Phe) rs80033521
NM_024589.3(ROGDI):c.580A>G (p.Ile194Val) rs2141906428
NM_024589.3(ROGDI):c.581_593del (p.Ile194fs) rs2141906388
NM_024589.3(ROGDI):c.584A>T (p.Asn195Ile) rs201116642
NM_024589.3(ROGDI):c.586C>T (p.Leu196Phe)
NM_024589.3(ROGDI):c.588C>G (p.Leu196=) rs766970849
NM_024589.3(ROGDI):c.590A>G (p.Asn197Ser) rs1567598164
NM_024589.3(ROGDI):c.595C>T (p.Leu199Phe)
NM_024589.3(ROGDI):c.597C>T (p.Leu199=)
NM_024589.3(ROGDI):c.599G>T (p.Cys200Phe) rs2082676635
NM_024589.3(ROGDI):c.5C>T (p.Ala2Val)
NM_024589.3(ROGDI):c.605C>G (p.Thr202Arg) rs2082676560
NM_024589.3(ROGDI):c.605C>T (p.Thr202Met) rs2082676560
NM_024589.3(ROGDI):c.607G>C (p.Val203Leu)
NM_024589.3(ROGDI):c.60C>A (p.Arg20=) rs1324673983
NM_024589.3(ROGDI):c.612C>T (p.Tyr204=) rs1555491054
NM_024589.3(ROGDI):c.613C>T (p.Gln205Ter) rs780059442
NM_024589.3(ROGDI):c.616C>G (p.Leu206Val) rs1384897869
NM_024589.3(ROGDI):c.616C>T (p.Leu206=)
NM_024589.3(ROGDI):c.625C>T (p.Leu209=) rs144866271
NM_024589.3(ROGDI):c.637T>G (p.Ser213Ala)
NM_024589.3(ROGDI):c.63G>C (p.Trp21Cys) rs1335552191
NM_024589.3(ROGDI):c.645+13C>T
NM_024589.3(ROGDI):c.645+15C>T
NM_024589.3(ROGDI):c.645+15del rs1356112429
NM_024589.3(ROGDI):c.645+4A>C rs1596274931
NM_024589.3(ROGDI):c.645+7_645+9del
NM_024589.3(ROGDI):c.645+8G>A rs1596274925
NM_024589.3(ROGDI):c.646-16G>T
NM_024589.3(ROGDI):c.646-19C>G rs761021735
NM_024589.3(ROGDI):c.646-2_649del
NM_024589.3(ROGDI):c.652C>T (p.Arg218Cys) rs1232072886
NM_024589.3(ROGDI):c.652dup (p.Arg218fs) rs2141905980
NM_024589.3(ROGDI):c.653G>A (p.Arg218His) rs747891068
NM_024589.3(ROGDI):c.658G>T (p.Ala220Ser) rs546063670
NM_024589.3(ROGDI):c.661G>A (p.Gly221Arg) rs757872277
NM_024589.3(ROGDI):c.665dup (p.Ala223fs) rs1039568775
NM_024589.3(ROGDI):c.667G>A (p.Ala223Thr) rs756917973
NM_024589.3(ROGDI):c.66G>A (p.Leu22=) rs1452732971
NM_024589.3(ROGDI):c.675G>C (p.Leu225=) rs752089137
NM_024589.3(ROGDI):c.677A>G (p.His226Arg)
NM_024589.3(ROGDI):c.681C>T (p.Ser227=) rs2082673176
NM_024589.3(ROGDI):c.68T>C (p.Leu23Pro) rs1334307149
NM_024589.3(ROGDI):c.692T>C (p.Met231Thr) rs1437175362
NM_024589.3(ROGDI):c.695+13G>A
NM_024589.3(ROGDI):c.695+15G>A rs372447369
NM_024589.3(ROGDI):c.695+17G>A
NM_024589.3(ROGDI):c.695+17G>C
NM_024589.3(ROGDI):c.695+5G>A rs1567597416
NM_024589.3(ROGDI):c.695+6T>C rs2082672876
NM_024589.3(ROGDI):c.695+7A>G rs1555490999
NM_024589.3(ROGDI):c.695dup (p.Glu233fs)
NM_024589.3(ROGDI):c.696-10C>T
NM_024589.3(ROGDI):c.696-15T>G rs1567597183
NM_024589.3(ROGDI):c.696-18C>A
NM_024589.3(ROGDI):c.696-20G>A
NM_024589.3(ROGDI):c.696-26_696-14del rs1336885108
NM_024589.3(ROGDI):c.696-5C>T rs2141905536
NM_024589.3(ROGDI):c.700T>G (p.Trp234Gly) rs1252887236
NM_024589.3(ROGDI):c.707C>G (p.Ser236Cys) rs2141905479
NM_024589.3(ROGDI):c.714C>A (p.Arg238=) rs767322805
NM_024589.3(ROGDI):c.715_718del (p.Leu239fs) rs2082670823
NM_024589.3(ROGDI):c.725G>C (p.Ser242Thr) rs774473916
NM_024589.3(ROGDI):c.727C>G (p.His243Asp) rs2082670659
NM_024589.3(ROGDI):c.734A>G (p.His245Arg) rs2082670531
NM_024589.3(ROGDI):c.735C>T (p.His245=)
NM_024589.3(ROGDI):c.741G>T (p.Val247=) rs2082670478
NM_024589.3(ROGDI):c.742G>C (p.Glu248Gln) rs2141905379
NM_024589.3(ROGDI):c.748G>C (p.Val250Leu) rs749565672
NM_024589.3(ROGDI):c.751A>G (p.Ile251Val) rs2082670325
NM_024589.3(ROGDI):c.754C>A (p.Pro252Thr)
NM_024589.3(ROGDI):c.75C>T (p.Asp25=)
NM_024589.3(ROGDI):c.762C>A (p.Leu254=)
NM_024589.3(ROGDI):c.765C>G (p.Asn255Lys) rs144724709
NM_024589.3(ROGDI):c.769G>A (p.Ala257Thr) rs752895075
NM_024589.3(ROGDI):c.76G>C (p.Glu26Gln) rs868321489
NM_024589.3(ROGDI):c.771C>T (p.Ala257=)
NM_024589.3(ROGDI):c.774G>A (p.Leu258=) rs1253408885
NM_024589.3(ROGDI):c.774G>C (p.Leu258=) rs1253408885
NM_024589.3(ROGDI):c.775_795dup (p.Val259_Leu265dup) rs1567596763
NM_024589.3(ROGDI):c.777C>T (p.Val259=) rs372599256
NM_024589.3(ROGDI):c.785C>T (p.Thr262Ile)
NM_024589.3(ROGDI):c.786C>G (p.Thr262=) rs146812127
NM_024589.3(ROGDI):c.786C>T (p.Thr262=) rs146812127
NM_024589.3(ROGDI):c.789C>A (p.Val263=)
NM_024589.3(ROGDI):c.78G>A (p.Glu26=) rs145718534
NM_024589.3(ROGDI):c.78G>T (p.Glu26Asp) rs145718534
NM_024589.3(ROGDI):c.793C>A (p.Leu265Met) rs746176256
NM_024589.3(ROGDI):c.794T>G (p.Leu265Arg) rs771427647
NM_024589.3(ROGDI):c.801C>T (p.Leu267=) rs752844190
NM_024589.3(ROGDI):c.805C>T (p.Gln269Ter) rs755209314
NM_024589.3(ROGDI):c.819C>G (p.Asp273Glu) rs762853362
NM_024589.3(ROGDI):c.822+13C>G
NM_024589.3(ROGDI):c.822+14G>T
NM_024589.3(ROGDI):c.822+19C>T
NM_024589.3(ROGDI):c.823-14C>T rs201283169
NM_024589.3(ROGDI):c.823-19G>C
NM_024589.3(ROGDI):c.823-20A>G
NM_024589.3(ROGDI):c.823-3C>T
NM_024589.3(ROGDI):c.825C>A (p.Ile275=) rs752311951
NM_024589.3(ROGDI):c.825C>G (p.Ile275Met) rs752311951
NM_024589.3(ROGDI):c.825C>T (p.Ile275=) rs752311951
NM_024589.3(ROGDI):c.829G>C (p.Val277Leu) rs759234056
NM_024589.3(ROGDI):c.829G>T (p.Val277Leu) rs759234056
NM_024589.3(ROGDI):c.82C>T (p.His28Tyr)
NM_024589.3(ROGDI):c.831G>A (p.Val277=)
NM_024589.3(ROGDI):c.836C>T (p.Ser279Phe) rs765616394
NM_024589.3(ROGDI):c.837C>A (p.Ser279=) rs762201577
NM_024589.3(ROGDI):c.839G>T (p.Ser280Ile)
NM_024589.3(ROGDI):c.83A>C (p.His28Pro) rs2141915506
NM_024589.3(ROGDI):c.844T>C (p.Trp282Arg)
NM_024589.3(ROGDI):c.852C>T (p.Tyr284=)
NM_024589.3(ROGDI):c.856C>G (p.Pro286Ala) rs2082664303
NM_024589.3(ROGDI):c.858C>G (p.Pro286=) rs536893774
NM_024589.3(ROGDI):c.85G>C (p.Ala29Pro)
NM_024589.3(ROGDI):c.86C>G (p.Ala29Gly)
NM_024589.3(ROGDI):c.86C>T (p.Ala29Val) rs987992601
NM_024589.3(ROGDI):c.96G>A (p.Lys32=)
NM_024589.3(ROGDI):c.9C>T (p.Thr3=)

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